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Week in Brief: Week Ending 13th September

Welcome back to Week in Brief, your weekly rundown of all things genomics and beyond!

Some interesting neuroscience studies have been published this week…

Scientists have used base editing to prevent the function of risk genes for neurodevelopmental and psychiatric disorders to elucidate their role in disease. The modified cells essentially form a model of the human brain (Stem Cell Reports).

Researchers have identified cellular changes that are common across different forms of dementia, and some that are specific to certain subtypes. Understanding these molecular mechanisms could lead to better treatment for the condition (Cell).

A study into the genetic basis of dyslexia has revealed that the condition has genetic links to ADHD (Molecular Psychiatry).

Links between cancer and other conditions have been identified…

A commonly used diabetes drug, metformin, has been seen to slow the growth of precancerous cells in the oesophagus. In contrast, having conditions such as obesity or diabetes could increase the growth rate of these cells (Nature Genetics).

A large-scale study of rare protein-coding variants has led to the identification of genes linked to menopause, ovarian aging and egg quality, and also to cancer risk (Nature).

A mutation linked to abnormal heart rhythms has been identified in some cancer patients. The gene is involved in insulin signalling and can have deadly implications for patients (Circulation).

New tech has been in the news…

Scientists have developed a new technology to sequence single protein molecules in their native, full-length forms (Nature).

Researchers have started work on a cancer-preventing vaccine for those with Lynch syndrome. Lynch syndrome is linked to the early onset of several different cancer types, and it is hoped that this vaccine could increase survival within the Lynch syndrome population (Cancer Research UK).

Additionally, a new type of gene therapy vector has been developed using artificial intelligence. The engineered adeno-associated viral vector improves upon its predecessors in terms of safety and efficacy (Nature Communications).

What else has gone on this week?

Carriers of the sickle cell trait are at higher risk of blood clots, regardless of their ancestry. These findings could help to treat and prevent blood clots in those individuals whose risk may have been previously overlooked (Blood Advances).

Finally, a genome-wide association study, using data from the Million Veterans Program, has been in the news this week. The GWAS focused on the ‘big five’ personality traits and, along with a meta-analysis, revealed several genetic variants linked to personality (Nature Human Behaviour).

Check out last week’s Week in Brief here.